Chapter 10 - Clinical Applications for Next Generation Sequencing in Cardiology

Abstract

The management of patients with cardiomyopathies, primary arrhythmias, thoracic aortic aneurysms and dissections, familial hypercholesterolemia, and congenital heart defects requires genetic counseling regarding their highly hereditary character and the necessity to evaluate risk for asymptomatic family members. The results of genetic testing may also influence the implementation of protective measures and therapy. Considering the highly heterogeneous character of these conditions (over 100 genes directly involved in pathogenesis), as a substantial fraction of cases are caused by two or more genetic defects located in the same or different genes, molecular diagnostics requires a comprehensive approach that includes parallel analysis of a large number of genes, which can be provided in a time- and cost-efficient manner by commercially available next generation sequencing (NGS)-based panels with high yields of testing. As much of the genetic background of inherited cardiac conditions still remains to be identified, NGS techniques have already proved to be of great value in this field.